G11D (p.Gly11Asp) variant of STXBP1 (Syntaxin-binding protein 1)
G11D (p.Gly11Asp) in STXBP1 (Syntaxin-binding protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G11D (p.Gly11Asp) variant details
- p.Gly11Asp
- gnomAD 9-127613268-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 13.80
- Population evidence available
- Structural context available
- Literature evidence available